hrp0098p1-22 | Diabetes and Insulin 1 | ESPE2024

Clinical and molecular spectrum of polycystic kidney syndrome and diabetes due tomutations in hnf-1b

Salamanca Fresno Luis , Melgosa Hijosa Marta , Gomes Porras Mariana , González Casado Isabel , Campos Barros Ángel

Introduction: Polycystic kidney and diabetes syndrome (PCKDD) is an autosomal dominantly inherited disorder caused by HNF-1B mutations associated with a heterogeneous multisystemic phenotype mainly affecting kidney and pancreas, resulting in highly variable nephropathies, and frequently, diabetes diagnosed before the age of 25 yrs. Pancreatic hypoplasia, malformations in the genital tract and hepatic dysfunction may also be observed.<str...

hrp0089p3-p401 | Growth &amp; Syndromes P3 | ESPE2018

Is Using a Specific Growth Charts a Chance to be More Precise in Evaluation the Growth of the Children and Adolescence with Down Syndrome? Comparison of the Down’s Syndrome Growth Charts with the Growth Charts for Polish Population

Barg Ewa , Hetman Marta

Introduction: Down syndrome (DS) is a chromosomal disorder. Children with DS have different height and weight patterns compared to children without DS. The aim of our study was to compare anthropometric parameters (expressed in standard deviation score-SDS) of people with DS using charts for DS and population (P) charts.Materials and Methods: The study group consisted of 114 patients with DS (64 girls), aged 4 months – 36 years (average age: 8.2 yea...

hrp0094p1-28 | Diabetes A | ESPE2021

Glycemic control and changes in habits in patients with type 1 diabetes during the lockdown due to the COVID-19 pandemic

Valls Aina , Murillo Marta ,

Background: The SARS-CoV-2 pandemic has forced the authorities to impose a lockdown to minimize the risk of infection. This extreme and prolonged situation has caused changes in habits, dietary and glycemic control in children with type 1 diabetes (T1D). Continuous glucose monitoring (CGM) and Flash glucose monitoring (FGM) have allowed health care professionals to a remote control of the patients.Aim: The aim of the stu...

hrp0094p1-71 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Morning salivary cortisol and stress response in term and preterm infants hospitalized in the intensive care unit.

Olszewska Marta , Kwinta Przemko ,

Background: Newborns admitted to the intensive care unit (ICU) are exposed to multiple painful and stressful procedures. It is postulated that high pain exposure in the first weeks of life can have a long-lasting impact on the hypothalamic-pituitary-adrenal (HPA) axis. Assessment of the salivary cortisol (SC) is a useful method for non-invasive monitoring of baseline activity and stress response of HPA axis.Objective: An...

hrp0095p2-47 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Severe hypophosphatemia in a girl with vitamin D-dependent rickets type I: a case report

Menichetti Sofia , Ferrari Marta , Stagi Stefano

Introduction: Vitamin D-dependent rickets type I (OMIM # 264700) is a rare autosomical recessive disorder that affects vitamin-D metabolism characterized by severe hypocalcaemia with moderate hypophosphatemia. The most common form is type IA, caused by the mutation of gene coding for 1-alpha-hydroxylase (CYP27B1OMIM * 609506. 12q14) that converts the 25-OH-vitaminD in 1,25-OH-vitaminD.Case report: A 2.3 years female with...

hrp0095p2-169 | Growth and Syndromes | ESPE2022

Response to Treatment with Recombinant Growth Hormone in Children and Adolescents with Short Stature Associated with Noonan Syndrome

Ramon-Krauel Marta , Suárez Ortega Larisa

Introduction: Noonan Syndrome (NS) is a genetic disorder caused by mutations in the RAS/MAPK pathway. The clinical phenotype is variable; however, short stature is present in more than 80% of cases. Several clinical trials have been conducted over the last decades using recombinant growth hormone (rhGH) in NS to treat short stature demonstrating efficacy and safety which lead to the European Medicines Agency (EMA) approval in 2020.<stron...

hrp0092p2-48 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Novel Mutation of the Prkar1a Gene in a Girl with Clinical Diagnosis of Pseudohypoparathyroidism

Toromanovic Alma , Francesca Marta Elli , Mantovani Giovanna

Introduction: Despite the high detection rate of GNAS molecular defects, about 30% of patients with a clinical suspect of PHP/AHO still lack a confirming molecular diagnosis. Mutations in genes encoding proteins crucial for cAMP-mediated signaling have been recently detected in a small subset of patients negative for GNAS defects, showing a phenotypic overlap between PHP and Acrodysostosis.Clinical case pres...

hrp0092p2-130 | Fat, Metabolism and Obesity | ESPE2019

Severe Obesity – Much More Than an Unhealthy Lifestyle

Matias Joana , Amorim Marta , Limbert Catarina

Introduction: Pediatric obesity is an important public health problem. Exogenous obesity represents most cases; in some children, obesity is attributable to endocrine or genetic disorders. Genetic etiology should be considered in children with dysmorphic features, global developmental delay, early onset severe obesity (before 5 years), hyperphagia or severe obesity family history. Regardless of the etiology, treatment must begin with long-term lifestyle change...

hrp0089p3-p414 | Adrenals and HPA Axis P3 | ESPE2018

Is the Third Time Really a Charm? The Story about Three Brothers Suffering from Adrenoleukodystrophy and about HSCT being a Chance to Stop the Unstoppable Disease

Hetman Marta , Kalwak Krzysztof , Barg Ewa

Introduction: Adrenoleukodystrophy (ALD) is a genetic diseases classified in the group of peroxisomal disorders caused by mutations in ABCD1, a gene located on the X chromosome. It is the most common monogenetically inherited neurodegenerative diseases. X-ALD is an inborn error of metabolism characterized by impaired peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) with a heterogeneous clinical spectrum. VLCFA accumulate principally in the CNS...

hrp0089p1-p268 | Thyroid P1 | ESPE2018

Analysis of Zinc-Transporter ZnT8 Autoantibodies in Children and Adolescents with Autoimmune Thyroid Diseases

Michalak Justyna , Rydzewska Marta , Bossowski Artur

Backgroud: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It was demonstrated that ZnT family plays an important role in the synthesis and secretion of many hormones. Moreover, recently ZnT8 was described as a newly islet autoantigen in type 1 diabetes.Material and methods: The study was performed in the group consisting of patients with 44 Graves’ disease (...